388例骨骼发育异常胎儿遗传学分析  

Genetic analysis of 388 fetuses with skeletal dysplasia

作　　者：玉晋武[1,2] 欧阳鲁平 黄朋 苏家荪[1,2] 杨祚建 易赏 罗静思 YU Jin-wu;OUYANG Lu-ping;HUANG Peng;SU Jia-sun;YANG Zuo-jian;YI Shang;LUO Jing-si(Laboratory of Genetic Metabolism Center,Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530002;Birth Defects Prevention&control Institute of Guangxi Zhuang Autonomous Region,Nanning 530002;Department of ultrasound,Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning530002)

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530002 [2]广西壮族自治区出生缺陷预防控制研究所,南宁530002 [3]广西壮族自治区妇幼保健院超声科,南宁530002

出　　处：《生殖医学杂志》2024年第6期739-744,共6页Journal of Reproductive Medicine

基　　金：广西医疗卫生适宜技术开发与推广应用项目(S2020060)。

摘　　要：目的分析骨骼发育异常胎儿的遗传学因素,探讨其在骨骼发育异常胎儿中的作用。方法选择2016年1月至2022年12月于广西壮族自治区妇幼保健院进行产前检查的388例超声检查提示骨骼发育异常或合并其他结构异常的胎儿为研究对象。回顾性分析388例胎儿的临床资料,比较其染色体核型分析与单核苷酸多态性微阵列(SNP-array)的检测结果。结果388例胎儿骨骼发育异常产前样本中,染色体核型分析结果发现异常20例,异常检出率为5.2%(20/388);SNP-array检出异常56例,异常检出率为14.4%(56/388)。在SNP-array检出的56例异常胎儿中,有19例胎儿的染色体核型分析结果为异常,其余37例胎儿核型正常。这37例正常核型胎儿中有12例为致病性拷贝数变异(CNVs),检出率为3.1%(12/388);另外25例为临床意义不明性CNVs。结论当超声检查提示胎儿骨骼发育异常时,胎儿可能存在染色体异常,建议行介入性产前诊断,以明确胎儿是否存在致病性基因缺陷,为临床遗传咨询提供更多参考依据。Objective:To explore the genetic factors of fetal skeletal dysplasia and its role in the development of fetal skeletal dysplasia.Methods:From January 2016 to December 2022,388 fetuses with skeletal dysplasia and with or without other institutional abnormalities indicated by ultrasonography were selected from the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.The clinical data of 388 fetuses were retrospectively analyzed,and the results of chromosome karyotype analysis and single nucleotide polymorphism(SNP)array detection were statistically analyzed.Results:Among the prenatal samples of 388 pregnant women with fetal skeletal dysplasia,20 cases were found abnormal by chromosome karyotype analysis,and the abnormal detection rate was 5.2%(20/388).Fifty-six cases were found abnormal by SNP array detected,with 14.4%(56/388)of the abnormal detection rate.In 56 abnormal fetuses detected by SNP array,19 fetuses had abnormal chromosomal karyotyping results,while the other 37 fetuses had normal results.Twelve of 37 fetuses with normal karyotype analysis results and abnormal SNP array results were pathogenic copy number variations(CNVs)with 3.1%(12/388)of the detection rate,and 25 of them were CNVs with unknown clinical significance.Conclusions:When ultrasound examination indicates abnormal fetal skeletal development,it should be paid attention to a risk of chromosomal abnormalities.Interventional prenatal diagnosis is recommended for determining whether the fetus has pathogenic genetic defects and provide references for clinical genetic counseling.

关 键 词：骨骼发育异常 染色体异常 染色体核型分析 单核苷酸多态性微阵列 遗传学分析 

分 类 号：R714.53[医药卫生—妇产科学]